Lethal Lung Disease (LAMP3) – Airedale Terrier
Kodas: H961
Short description
Pulmonary Surfactant Metabolism Dysfunction is a lethal genetic defect found in the Airedale Terrier, causing puppies to be born with severely dysfunctional lungs.
General information
Pulmonary Surfactant Metabolism Dysfunction is a lethal genetic defect found in the Airedale Terrier, causing puppies to be born with severely dysfunctional lungs. The disease is caused by a recessive mutation to the gene LAMP3.
Specifications
| Breeds | |
|---|---|
| Gene | LAMP3 |
| Chromosome | 34 |
| Mutation | c.1159G>A |
| Organ | Respiratory System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive Lethal |
Clinical features
Affected puppies are born with fluid-filled, congested, poorly-functioning lungs. Within the first few days of life, they will develop severe breathing difficulties and lethargy, and are likely to die or require euthanasia within the first week.
References
Pubmed ID: 32150563
Year published: 2020
Omia ID: 2251
Omia variant ID:
Turnaround information
- 10 working days